BFSP1

beaded filament structural protein 1
OMIM: 603307, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green BFSP1 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 8.1
Latest signed off version: v8.0 (6 May 2026)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 33, 611391
Red BFSP1 in Structural eye disease


Level 2: Ophthalmology
Version 5.6
Latest signed off version: v5.0 (6 May 2026)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Cataract 33, 611391